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- 2023
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Mark
Ethnic, gender and other sociodemographic biases in genome-wide association studies for the most burdensome non-communicable diseases : 2005-2022
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- Contribution to journal › Article
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Mark
Circulating triglycerides are associated with human adipose tissue DNA methylation of genes linked to metabolic disease
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- Contribution to journal › Article
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Mark
Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity
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- Contribution to journal › Article
- 2022
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Mark
Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes
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- Contribution to journal › Article
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Mark
Genomic editing of metformin efficacy-associated genetic variants in SLC47A1 does not alter SLC47A1 expression
(
- Contribution to journal › Article
- 2020
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Mark
Effect of rare coding variants in the CFI gene on Factor I expression levels
(
- Contribution to journal › Article
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Mark
Prostate cancer risk SNP rs10993994 is a trans-eQTL for SNHG11 mediated through MSMB
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- Contribution to journal › Article
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Mark
Demonstration of brain region-specific neuronal vulnerability in human iPSC-based model of familial Parkinson's disease
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- Contribution to journal › Article
- 2019
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Mark
Genome-wide meta-analysis identifies BARX1 and EML4-MTA3 as new loci associated with infantile hypertrophic pyloric stenosis
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- Contribution to journal › Article
- 2018
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Mark
A genome-wide association study of IgM antibody against phosphorylcholine : Shared genetics and phenotypic relationship to chronic lymphocytic leukemia
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- Contribution to journal › Article
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Mark
Consortium-based genome-wide meta-analysis for childhood dental caries traits
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- Contribution to journal › Article
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Mark
Functional analyses of rare genetic variants in complement component C9 identified in patients with age-related macular degeneration
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- Contribution to journal › Article
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Mark
Genome-wide meta-analysis identifies novel determinants of circulating serum progranulin
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- Contribution to journal › Article
- 2017
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Mark
Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease
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- Contribution to journal › Article
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Mark
Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation
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- Contribution to journal › Article
- 2016
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Mark
Genome wide association study identifies two loci associated with cadmium in erythrocytes among never-smokers
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- Contribution to journal › Article
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Mark
Analysis with the exome array identifies multiple new independent variants in lipid loci
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- Contribution to journal › Article
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Mark
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility
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- Contribution to journal › Article
- 2015
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Mark
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
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- Contribution to journal › Article
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Mark
WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.
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- Contribution to journal › Article
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Mark
Identification of novel genes for glucose metabolism based upon expression pattern in human islets and effect on insulin secretion and glycemia.
(
- Contribution to journal › Article
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Mark
Low dietary protein content alleviates motor symptoms in mice with mutant dynactin/dynein-mediated neurodegeneration.
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- Contribution to journal › Article
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Mark
Association of exome sequences with plasma C-reactive protein levels in >9000 participants.
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- Contribution to journal › Article
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Mark
Impact of age, BMI and HbA1c levels on the genome-wide DNA methylation and mRNA expression patterns in human adipose tissue and identification of epigenetic biomarkers in blood.
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- Contribution to journal › Article
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Mark
Gene×dietary pattern interactions in obesity: analysis of up to 68,317 adults of European ancestry.
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- Contribution to journal › Article
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Mark
Risk of childhood asthma is associated with CpG-site polymorphisms, regional DNA methylation and mRNA levels at the GSDMB/ORMDL3 locus
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- Contribution to journal › Article
- 2014
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Mark
Genome-wide association study and mouse expression data identify a highly conserved 32kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.
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- Contribution to journal › Article
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Mark
Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade.
(
- Contribution to journal › Article
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Mark
Ubiquitin-specific protease-14 reduces cellular aggregates and protects against mutant huntingtin-induced cell degeneration: involvement of the proteasome and ER stress-activated kinase IRE1α
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- Contribution to journal › Article
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Mark
Gene-centric meta-analyses for central adiposity traits in up to 57 412 individuals of European descent confirm known loci and reveal several novel associations
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- Contribution to journal › Article
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Mark
Loss of TFB1M results in mitochondrial dysfunction that leads to impaired insulin secretion and diabetes.
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- Contribution to journal › Article
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Mark
TCF7L2 is a master regulator of insulin production and processing.
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- Contribution to journal › Article
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Mark
FTO genetic variants, dietary intake and body mass index: insights from 177 330 individuals.
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- Contribution to journal › Article
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Mark
Integrative Genome and Transcriptome Analyses Reveal Two Distinct Types of Ring Chromosome in Soft Tissue Sarcomas.
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- Contribution to journal › Article
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Mark
Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of Dementia with Lewy Bodies.
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- Contribution to journal › Article
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Mark
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium
(
- Contribution to journal › Article
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Mark
Sarcospan integration into laminin-binding adhesion complexes that ameliorate muscular dystrophy requires utrophin and α7 integrin
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- Contribution to journal › Article
- 2013
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Mark
Deciphering the 8q24.21 association for glioma
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- Contribution to journal › Article
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Mark
Role of Gα(olf) in Familial and Sporadic Adult-Onset Primary Dystonia.
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- Contribution to journal › Article
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Mark
Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish
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- Contribution to journal › Article
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Mark
Role of WT1-ZNF224 interaction in the expression of apoptosis-regulating genes
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- Contribution to journal › Article
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Mark
Loci influencing blood pressure identified using a cardiovascular gene-centric array
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- Contribution to journal › Article
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Mark
Hypothalamic expression of mutant huntingtin contributes to the development of depressive-like behavior in the BAC transgenic mouse model of Huntingtons disease
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- Contribution to journal › Article
- 2012
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Mark
Bezafibrate administration improves behavioral deficits and tau pathology in P301S mice
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- Contribution to journal › Article
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Mark
Selective neuroprotective effects of the S18Y polymorphic variant of UCH-L1 in the dopaminergic system
(
- Contribution to journal › Article
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Mark
alpha-Synuclein expression and Nrf2 deficiency cooperate to aggravate protein aggregation, neuronal death and inflammation in early-stage Parkinson's disease
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- Contribution to journal › Article
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Mark
A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations
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- Contribution to journal › Article
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Mark
Pharmacological interference with the glucocorticoid system influences symptoms and lifespan in a mouse model of Rett syndrome.
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- Contribution to journal › Article
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Mark
Survival of pancreatic beta cells is partly controlled by a TCF7L2-p53-p53INP1-dependent pathway.
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- Contribution to journal › Article
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Mark
Cdk1, but not Cdk2, is the sole Cdk that is essential and sufficient to drive resumption of meiosis in mouse oocytes
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- Contribution to journal › Article